hypogonadotropic hypogonadism 3 with or without anosmia


hypothalamic dysfunction

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


congenital absence of thigh and lower leg with foot present, unilateral


arthrogryposis-like hand anomaly-sensorineural deafness syndrome


severe neurodegenerative syndrome with lipodystrophy


shoulder and thorax deformity-congenital heart disease syndrome


autosomal recessive nonsyndromic hearing loss 44


subaortic stenosis-short stature syndrome


myopathy due to myoadenylate deaminase deficiency


MELAS syndrome caused by mutation in MTTH


polyarticular juvenile rheumatoid arthritis


autosomal dominant nonsyndromic hearing loss 31


intellectual disability-hyperkinetic movement-truncal ataxia syndrome


aggressive primary cutaneous B-cell lymphoma


epilepsy, familial focal, with variable foci 1


microcephaly-polymicrogyria-corpus callosum agenesis syndrome


autosomal recessive nonsyndromic hearing loss 79


familial recurrent peripheral facial palsy


paternal uniparental disomy of chromosome 6


encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy


hypophosphatemic rickets, X-linked recessive


congenital bilateral absence of vas deferens


congenital disorder of glycosylation with defective fucosylation 1


autosomal recessive spastic paraplegia type 71


midline interhemispheric variant of holoprosencephaly


hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


multiple epiphyseal dysplasia, Lowry type


chromosome 19q13.11 deletion syndrome, proximal


catecholaminergic polymorphic ventricular tachycardia 2


Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone


microcephaly with simplified gyral pattern


acute myeloid leukemia, t(7;12)(q36;p13)


immunodeficiency due to a classical component pathway complement deficiency


bulbar conjunctival dermoid or conjunctival dermolipoma


acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)


46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors


microcephaly 2, primary, autosomal recessive, with or without cortical malformations


symphalangism with multiple anomalies of hands and feet


torsade-de-pointes syndrome with short coupling interval


autosomal dominant optic atrophy, classic form


lower motor neuron syndrome with late-adult onset


Charcot-Marie-Tooth disease axonal type 2T


46,XY disorder of sex development due to isolated 17,20-lyase deficiency


chromosome 17q21.31 duplication syndrome


ehlers-danlos syndrome, arthrochalasia type, 2


familial clubfoot due to 5q31 microdeletion


neurodevelopmental disorder with microcephaly and dysmorphic facies


heterotopia, periventricular, X-linked dominant


cervical hypertrichosis-peripheral neuropathy syndrome


qualitative or quantitative defects of alphaB-cristallin


severe combined immunodeficiency due to CTPS1 deficiency


juvenile-onset Steinert myotonic dystrophy


retinitis pigmentosa 87 with choroidal involvement


class V glucose-6-phosphate dehydrogenase deficiency


hypoxanthine guanine phosphoribosyltransferase partial deficiency


developmental and epileptic encephalopathy, 15


combined oxidative phosphorylation defect type 29


behavioral variant of frontotemporal dementia


autosomal dominant nonsyndromic hearing loss 10


intellectual disability, X-linked, syndromic, 35


microcephaly 6 with or without short stature


X-linked intellectual disability-short stature-overweight syndrome


mitochondrial complex 3 deficiency, nuclear type 10


familial hemophagocytic lymphohistiocytosis 4


qualitative or quantitative defects of perlecan


homocystinuria due to methylene tetrahydrofolate reductase deficiency


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2


brain malformations with or without urinary tract defects


retinal ciliopathy due to mutation in nephronophthisis gene


ulna hypoplasia-intellectual disability syndrome


Angelman syndrome due to imprinting defect in 15q11-q13


complex cortical dysplasia with other brain malformations 2


Prader-Willi syndrome due to imprinting mutation


inclusion body myopathy with Paget disease of bone and frontotemporal dementia


congenital primary megaureter, refluxing and obstructed form


mitochondrial proton-transporting ATP synthase complex deficiency


mitochondrial DNA depletion syndrome, hepatocerebrorenal form


neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


autosomal dominant nonsyndromic hearing loss 68


spondyloepiphyseal dysplasia, MacDermot type


malignant cutaneous granular cell skin tumor


malignant epithelial tumor of salivary glands


non-acquired combined pituitary hormone deficiency with spine abnormalities


chronic mucocutaneous candidiasis due to lymphokine deficiency


hyperphosphatasia with intellectual disability syndrome 3


developmental and epileptic encephalopathy, 69


neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


corticosterone methyloxidase type 2 deficiency


FASTKD2-related infantile mitochondrial encephalomyopathy


Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type


glutathione synthetase deficiency without 5-oxoprolinuria


ossification anomalies-psychomotor developmental delay syndrome


Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome


X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome


chlamydia trachomatis infectious disease


Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


hypogonadotropic hypogonadism 24 without anosmia


partial duplication of the long arm of chromosome 3


Larsen-like osseous dysplasia-short stature syndrome


acrofacial dysostosis, Kennedy-Teebi type


aortic aneurysm, familial thoracic 11, susceptibility to


frontotemporal dementia and/or amyotrophic lateral sclerosis 6


syndromic X-linked intellectual disability Siderius type


arthrogryposis epileptic seizures migrational brain disorder


congenital anomaly of kidney and urinary tract


autosomal recessive limb-girdle muscular dystrophy type 2L


developmental and epileptic encephalopathy, 90


intellectual developmental disorder, autosomal recessive 68


spastic paraplegia 86, autosomal recessive


Ambras type hypertrichosis universalis congenita


psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome


benign male reproductive system neoplasm


childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder


combined hyperactive dysfunction syndrome of the cranial nerves


metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria


pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis


type II hypersensitivity reaction disease


severe nonproliferative diabetic retinopathy


autosomal recessive nonsyndromic hearing loss 102


intellectual disability, autosomal recessive 44


partial trisomy of the long arm of chromosome 18


childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome


peroxisome biogenesis disorder 4A (Zellweger)


spondyloepiphyseal dysplasia, kondo-fu type


metachromatic leukodystrophy, late infantile form


paternal uniparental disomy of chromosome 1


SLC10A7-congenital disorder of glycosylation


developmental and epileptic encephalopathy, 48


isolated bilateral hemispheric cerebellar hypoplasia


polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies


spondyloepimetaphyseal dysplasia, aggrecan type


intellectual disability, autosomal recessive 56


acute myeloid leukemia, t(16;21)(p11;q22)


split-foot malformation-mesoaxial polydactyly syndrome


chromosome 19q13.11 deletion syndrome, distal


multiple sclerosis-ichthyosis-factor VIII deficiency syndrome


dyskeratosis congenita, autosomal recessive 6


spinal muscular atrophy with congenital bone fractures 2


autosomal recessive frontotemporal pachygyria


Charcot-Marie-Tooth disease axonal type 2Z


granulomatous disease with defect in neutrophil chemotaxis


limbic encephalitis with caspr2 antibodies


polymicrogyria, bilateral perisylvian, autosomal recessive


chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation


neurodevelopmental disorder with or without autism or seizures


congenital disorder of glycosylation syndrome type 4


autosomal dominant hereditary demyelinating motor and sensory neuropathy


muscle-eye-brain disease with bilateral multicystic leucodystrophy


hypomagnesemia, seizures, and intellectual disability 2


hypomyelination with brain stem and spinal cord involvement and leg spasticity


autosomal recessive nonsyndromic hearing loss 5


myeloproliferative disease, autosomal recessive


lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy


developmental and epileptic encephalopathy, 79


developmental and epileptic encephalopathy, 40


intellectual disability, autosomal recessive 60


cerebellar hypoplasia-tapetoretinal degeneration syndrome


progeroid features-hepatocellular carcinoma predisposition syndrome


neurodevelopmental disorder with or without seizures and gait abnormalities


autosomal dominant nonsyndromic hearing loss 66


conductive deafness-ptosis-skeletal anomalies syndrome


autosomal recessive nonsyndromic hearing loss 42


lissencephaly 9 with complex brainstem malformation


autosomal recessive spinocerebellar ataxia 11


Ehlers-Danlos syndrome, musculocontractural type 2


circadian rhythm sleep disorder, advanced sleep phase type


severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome


chondroectodermal dysplasia with night blindness


developmental and epileptic encephalopathy, 3


autosomal dominant childhood-onset proximal spinal muscular atrophy


osteopenia-intellectual disability-sparse hair syndrome


X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome


erythrokeratodermia variabilis et progressiva 1


split-hand/foot malformation with long bone deficiency 1


X-linked complicated corpus callosum dysgenesis


T-cell childhood acute lymphocytic leukemia


Schistosoma japonicum infectious disease


autosomal dominant cerebellar ataxia type I


myopathy, centronuclear, 6, with fiber-type disproportion


congenital insensitivity to pain with hyperhidrosis


complete atrioventricular canal-ventricle hypoplasia syndrome


palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome


severe phosphoribosylpyrophosphate synthetase superactivity


isolated unilateral hemispheric cerebellar hypoplasia


hyper-IgE recurrent infection syndrome 4A, autosomal dominant


lipodystrophy due to peptidic growth factors deficiency


Niemann-Pick disease type C, late infantile neurologic onset


mitochondrial complex II deficiency, nuclear type 1


inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2


microphthalmia, isolated, with cataract 1


autosomal recessive nonsyndromic hearing loss 71


benign familial nocturnal alternating hemiplegia of childhood


microcephaly 28, primary, autosomal recessive


MELAS syndrome caused by mutation in MTTL1


mitochondrial DNA deletion syndrome with progressive myopathy


odontochondrodysplasia 2 with hearing loss and diabetes


chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency


MELAS syndrome caused by mutation in MTTS1


neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies


primary bone dysplasia with disorganized development of skeletal components


arrhythmogenic cardiomyopathy with woolly hair and keratoderma


neuropathy, congenital hypomyelinating, 2


encephalopathy due to beta-mercaptolactate-cysteine disulfiduria


inborn disorder of aspartate family metabolism


male infertility with azoospermia or oligozoospermia due to single gene mutation


pterygium colli-intellectual disability-digital anomalies syndrome


short-rib thoracic dysplasia 19 with or without polydactyly


intellectual disability, autosomal recessive 52


developmental delay and seizures with or without movement abnormalities


progressive familial heart block type II


congenital stationary night blindness 1D


RFT1-congenital disorder of glycosylation


46,XY disorder of sex development of endocrine origin


immunodeficiency due to ficolin3 deficiency


isolated partial cerebellar vermis agenesis


developmental and epileptic encephalopathy, 18


lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2


non-syndromic X-linked intellectual disability


myeloid neoplasm associated with FGFR1 rearrangement


immunodeficiency-centromeric instability-facial anomalies syndrome 2


intellectual disability, autosomal recessive 9


familial clubfoot with or without associated lower limb anomalies


familial hemophagocytic lymphohistiocytosis 2


neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities


spondyloepiphyseal dysplasia tarda, autosomal dominant


neuronopathy, distal hereditary motor, type 2B


acquired hemophagocytic lymphohistiocytosis associated with malignant disease


autosomal recessive myogenic arthrogryposis multiplex congenita


hyper-IgM syndrome with susceptibility to opportunistic infections


dyskeratosis congenita, autosomal recessive 3


tall stature-intellectual disability-facial dysmorphism syndrome


glutamate pyruvate transaminase 2 deficiency


acromesomelic dysplasia 2C, Hunter-Thompson type


X-linked intellectual disability with isolated growth hormone deficiency


balanced Robertsonian translocation Down syndrome


inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency


basal ganglia calcification, idiopathic, 6


spondylocostal dysostosis-hypospadias-intellectual disability syndrome


intellectual disability-cataracts-calcified pinnae-myopathy syndrome


intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome


microcephaly-microcornea syndrome, Seemanova type


straddling or overriding tricuspid valve


epidermolysis bullosa simplex 2B, generalized intermediate


developmental and epileptic encephalopathy, 85, with or without midline brain defects


maternal 14q32.2 hypermethylation syndrome


punctate palmoplantar keratoderma type 1


chondrodysplasia with joint dislocations, gPAPP type


qualitative or quantitative defects of nebulin


postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome


peroxisome biogenesis disorder due to PEX7 defect


pigmented nodular adrenocortical disease, primary, 4


microcephaly-cervical spine fusion anomalies syndrome


autosomal recessive spastic paraplegia type 60


autosomal recessive spinocerebellar ataxia 13


autosomal dominant pure spastic paraplegia


bacterial meningitis caused by gram-negative bacteria


Stickler syndrome, type I, nonsyndromic ocular


autosomal recessive nonsyndromic hearing loss 84A


microphthalmia, isolated, with coloboma 7


renal hypomagnesemia 5 with ocular involvement


autosomal recessive dyskeratosis congenita 4


autosomal recessive nonsyndromic hearing loss 18B


adrenocortical unresponsiveness to ACTH with postreceptor defect


global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome


generalized epilepsy with febrile seizures plus, type 7


childhood testicular mixed embryonal carcinoma and teratoma


autosomal dominant limb-girdle muscular dystrophy type 1G


peroxisome biogenesis disorder 6A (Zellweger)


ectodermal dysplasia alopecia preaxial polydactyly


spondyloepiphyseal dysplasia tarda with characteristic facies


testicular non-seminomatous germ cell cancer


progressive supranuclear palsy-pure akinesia with gait freezing syndrome


infantile onset panniculitis with uveitis and systemic granulomatosis


immunodeficiency 98 with autoinflammation, X-linked


autosomal dominant limb-girdle muscular dystrophy type 1E (DES)


intellectual developmental disorder with gastrointestinal difficulties and high pain threshold


autosomal recessive nonsyndromic hearing loss 48


retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome


combined oxidative phosphorylation defect type 11


arachnodactyly-abnormal ossification-intellectual disability syndrome


epidermolysis bullosa simplex with anodontia/hypodontia


spinocerebellar ataxia, autosomal recessive 26


keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome


autosomal recessive epidermolytic ichthyosis


total circumpapillary dystrophy of choroid


developmental and epileptic encephalopathy, 72


inborn mitochondrial metabolism disorder


syndromic sensorineural deafness due to combined oxidative phosphorylation defect


renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


Charcot-Marie-Tooth disease axonal type 2N


autosomal dominant complex spastic paraplegia type 9B


spondyloepimetaphyseal dysplasia, Isidor type


acute myeloid leukemia, t(11;19)(q23;p13.1)


Charcot-Marie-Tooth disease recessive intermediate B


MME-related autosomal dominant Charcot Marie Tooth disease type 2


mitochondrial complex 4 deficiency, nuclear type 15


syndromic X-linked intellectual disability Snyder type


autosomal dominant nonsyndromic hearing loss 51


uterine corpus perivascular epithelioid cell tumor


isolated growth hormone deficiency type IB


combined oxidative phosphorylation deficiency 44


ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome


severe achondroplasia-developmental delay-acanthosis nigricans syndrome


corticosterone methyloxidase type 1 deficiency


white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome


autosomal dominant Charcot-Marie-Tooth disease type 2M


inborn disorder of lysosomal amino acid transport


hearing loss, sensorineural, autosomal-mitochondrial type


benign partial epilepsy of infancy with complex partial seizures


muscular dystrophy, limb-girdle, autosomal recessive 27


double outlet right ventricle with subaortic or doubly committed ventricular septal defect


chromosome 22q11.2 deletion syndrome, distal


mitochondrial complex 1 deficiency, nuclear type 9


synchronous multifocal osteogenic sarcoma


ataxia-telangiectasia with generalized skin pigmentation and early death


ceroid lipofuscinosis, neuronal, 4 (Kufs type)


acute myeloid leukemia, FLT3 internal tandem duplication


microcephaly 14, primary, autosomal recessive


benign childhood occipital epilepsy, Gastaut type


autosomal dominant nonsyndromic hearing loss 44


intellectual disability-balding-patella luxation-acromicria syndrome


intellectual disability, autosomal dominant


encephalopathy, acute, infection-induced, susceptibility to, 4


Charcot-Marie-Tooth Disease, axonal, type 2GG


autosomal recessive spinocerebellar ataxia 18


Bicervical bicornuate uterus with patent cervix and vagina


complex cortical dysplasia with other brain malformations 1


acute poisoning by drugs with membrane-stabilizing effect


epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency


mitochondrial complex 4 deficiency, nuclear type 17


inborn disorder of glycine and serine metabolism


intellectual disability, autosomal dominant 38


primary bone dysplasia with increased bone density


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3


epidermolysis bullosa, junctional 3B, severe


autosomal recessive spondylometaphyseal dysplasia, Megarbane type


lymphedema-cerebral arteriovenous anomaly syndrome


hypertrophic osteoarthropathy, primary, autosomal dominant


coronary artery disease, autosomal dominant, 1


congenital pulmonary airway malformation type 1


autoinflammatory syndrome with immunodeficiency


self-limited familial and non-familial infantile seizures


wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia


X-linked intellectual disability-seizures-psoriasis syndrome


neurodevelopmental disorder with visual defects and brain anomalies


autosomal recessive nonsyndromic hearing loss 13


acute myeloid leukemia, t(6;9)(p23;q34.1)


spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome


high-grade neuroendocrine carcinoma of the corpus uteri


intellectual disability, autosomal recessive 63


partial duplication of the long arm of chromosome 14


idiopathic and/or familial pulmonary arterial hypertension


acute myeloid leukemia, CEBPA gene mutation


distal myopathy with vocal cord weakness


intellectual disability, autosomal dominant 3


ketoacidosis due to monocarboxylate transporter-1 deficiency


combined oxidative phosphorylation deficiency 42


epidermolysis bullosa simplex 1A, generalized severe


toxic maculopathy due to antimalarial drugs


congenital stationary night blindness 1H


mitochondrial complex 1 deficiency, nuclear type 25


multiple congenital anomalies/dysmorphic syndrome


herpes simplex type 2 infectious disease


transient congenital hypothyroidism due to maternal factor


craniosynostosis with ocular abnormalities and hallucal defects


autosomal recessive ataxia due to PEX10 deficiency


autosomal recessive limb-girdle muscular dystrophy


spondyloepimetaphyseal dysplasia, Bieganski type


microphthalmia, isolated, with coloboma 10


central sleep apnea caused by high altitude


spondylocostal dysostosis 2, autosomal recessive


atypical pantothenate kinase-associated neurodegeneration


facial paresis, hereditary congenital, 3


Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1


brachydactyly-mesomelia-intellectual disability-heart defects syndrome


double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis


scleromyxedema without monoclonal gammopathy


ectopia lentis-chorioretinal dystrophy-myopia syndrome


ectodermal dysplasia 13, hair/tooth type


Charcot-Marie-Tooth disease axonal type 2K


Pasteurella multocida infectious disease


primary cutaneous peripheral T-cell lymphoma not otherwise specified


lethal occipital encephalocele-skeletal dysplasia syndrome


immunodeficiency predominantly affecting antibody production


congenital nonspherocytic hemolytic anemia


palmoplantar keratoderma i, striate, focal, or diffuse


autosomal recessive nonsyndromic hearing loss 91


autosomal recessive nonsyndromic hearing loss 16


microcephaly-seizures-intellectual disability-heart disease syndrome


immunodeficiency due to MASP-2 deficiency


peroxisome biogenesis disorder due to PEX16 defect


splenogonadal fusion-limb defects-micrognathia syndrome


Charcot-Marie-Tooth disease with ptosis and parkinsonism


partial duplication of the short arm of chromosome 6


developmental and epileptic encephalopathy, 87


partial duplication of the long arm of chromosome 6


chromosome 17P13.3, telomeric, duplication syndrome


progressive pseudorheumatoid arthropathy of childhood


pulmonary hypertension, primary, autosomal recessive


glycogen storage disease type 1 due to SLC37A4 mutation


situs inversus totalis with cystic dysplasia of kidneys and pancreas


intellectual developmental disorder 60 with seizures


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


developmental and epileptic encephalopathy, 65


SLC35A2-congenital disorder of glycosylation


febrile ulceronecrotic Mucha-Habermann disease


peroxisome biogenesis disorder due to PEX3 defect


benign familial mesial temporal lobe epilepsy


inborn disorder of lysine, hydroxylysine, and tryptophan metabolism


thrombophilia, familial, due to decreased release of tissue plasminogen activator


autosomal dominant nonsyndromic hearing loss 2A


autosomal recessive nonsyndromic hearing loss 103


corticosteroid-sensitive aseptic abscess syndrome


cryptosporidiosis-chronic cholangitis-liver disease syndrome


corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


Joubert syndrome with Jeune asphyxiating thoracic dystrophy


autosomal recessive spinocerebellar ataxia 14


acute megakaryoblastic leukemia in down syndrome


autosomal recessive spastic paraplegia type 59


mitochondrial complex 1 deficiency, nuclear type 26


autosomal recessive nonsyndromic hearing loss 98


X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome


celiac disease-epilepsy-cerebral calcification syndrome


female infertility due to oocyte meiotic arrest


qualitative or quantitative defects of emerin


ALG1-congenital disorder of glycosylation


sulfite oxidase deficiency due to molybdenum cofactor deficiency


intellectual disability, autosomal recessive 4


X-linked intellectual disability, Stocco dos Santos type


microcephaly, growth restriction and increased sister chromatid exchange


X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome


immunodeficiency 65, susceptibility to viral infections


dysostosis with predominant vertebral with and without costal involvement


metachromatic leukodystrophy due to saposin b deficiency


disorder of lectin complement activation pathway


acute myeloid leukemia, t(4;11)(q21;q23)


male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome


acquired carbohydrate metabolism disease


periodic paralysis with transient compartment-like syndrome


intellectual disability, autosomal recessive 12


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome


combined oxidative phosphorylation deficiency 33


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1


adenosine monophosphate deaminase deficiency


spondyloepiphyseal dysplasia tarda, Kohn type


neurogenic scapuloperoneal syndrome, Kaeser type


mitochondrial complex 4 deficiency, nuclear type 19


autosomal recessive nonsyndromic hearing loss 96


non-syndromic developmental defect of the eye


muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome


pilodental dysplasia-refractive errors syndrome


myopathy, lactic acidosis, and sideroblastic anemia


reticular dystrophy of the retinal pigment epithelium


benign childhood occipital epilepsy, Panayiotopoulos type


multiple congenital anomalies due to 14q32.2 maternally expressed gene defect


strictly posterior acute myocardial infarction


neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures


disorder of O-N-acetylgalactosaminylglycan synthesis


degeneration of macula and posterior pole


skin disease caused by bacterial infection


amelogenesis imperfecta hypomaturation type 2A5


microcephaly 4, primary, autosomal recessive


seborrhea-like dermatitis with psoriasiform elements


X-linked recessive mitochondrial myopathy


cleft palate with or without ankyloglossia, X-linked


intellectual disability, autosomal recessive 59


isolated growth hormone deficiency, type 4


peripheral motor neuropathy-dysautonomia syndrome


linear skin defects with multiple congenital anomalies 3


muscular dystrophy-dystroglycanopathy, type B


acute myeloid leukemia, t(15;17)(q24;q21)


partial deletion of the long arm of chromosome 7


pseudoxanthoma elasticum-like papillary dermal elastolysis


combined oxidative phosphorylation deficiency 22


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2


severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism


functional variant of Guillain-Barre syndrome


rhizomelic chondrodysplasia punctata type 2


lethal arteriopathy syndrome due to fibulin-4 deficiency


autosomal dominant nonsyndromic hearing loss 64


proteasome-associated autoinflammatory syndrome 5


furuncular myiasis due to Cordylobia anthropophaga


COG7-congenital disorder of glycosylation


genetic inflammatory or rheumatoid-like osteoarthropathy


intellectual disability-brachydactyly-Pierre Robin syndrome


intellectual disability, autosomal dominant 34


partial deletion of the long arm of chromosome 16


microcephaly 15, primary, autosomal recessive


malignant pleural solitary fibrous tumor


absence deformity of leg-cataract syndrome


autosomal dominant centronuclear myopathy


spastic paraplegia 83, autosomal recessive


autosomal recessive humeroradial synostosis


neuropathy, hereditary sensory and autonomic, type 1A


progressive encephalopathy with leukodystrophy due to DECR deficiency


congenital heart defects, multiple types, 4


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3


Charcot-Marie-Tooth disease axonal type 2Q


acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor


intrinsic factor and r binder, combined congenital deficiency of


developmental and epileptic encephalopathy, 64


idiopathic steroid-sensitive nephrotic syndrome with minimal change


developmental and epileptic encephalopathy, 66


immune reconstitution inflammatory syndrome


periventricular heterotopia with microcephaly, autosomal recessive


central nervous system mesenchymal non-meningothelial tumor


inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation


osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome


partial duplication of the short arm of chromosome 2


familial cold autoinflammatory syndrome 3


ankyloblepharon filiforme-imperforate anus syndrome


leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome


infectious disease or post-infectious disorder


complex cortical dysplasia with other brain malformations 6


mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis


hyperinsulinemic hypoglycemia, familial, 1


developmental and epileptic encephalopathy, 6


spondylometaphyseal dysplasia, Sedaghatian type


mitochondrial complex III deficiency nuclear type 2


metaphyseal dysplasia without hypotrichosis


primary hypergonadotropic hypogonadism-partial alopecia syndrome


encephalopathy due to sulfite oxidase deficiency


non-severe combined immunodeficiency due to COPG1 deficiency


mitochondrial complex 4 deficiency, nuclear type 16


developmental and epileptic encephalopathy, 28


neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


X-linked cone dysfunction syndrome with myopia


immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


glutathione synthetase deficiency with 5-oxoprolinuria


monocytopenia with susceptibility to infections


infectious disorder of the nervous system


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency


autosomal dominant nonsyndromic hearing loss 58


partial trisomy of the long arm of chromosome 9


familial scaphocephaly syndrome, McGillivray type


autosomal dominant progressive nephropathy with hypertension


intellectual disability, autosomal recessive 66


Mayer-Rokitansky-Kuster-Hauser syndrome type 1


generalized epilepsy with febrile seizures plus, type 10


ichthyosis, congenital, autosomal recessive 14


congenital myopathy with internal nuclei and atypical cores


microcephaly 20, primary, autosomal recessive


intellectual disability, autosomal recessive 31


EMILIN-1-related connective tissue disease


inborn disorder of branched-chain amino acid metabolism


autosomal dominant nonsyndromic hearing loss 20


X-linked distal spinal muscular atrophy type 3


mitochondrial complex 1 deficiency, nuclear type 13


marginal papular palmoplantar keratoderma


self-limited familial and non-familial neonatal seizures


sinoatrial node dysfunction and deafness


dendritic cell sarcoma not otherwise specified


arthrogryposis, distal, with impaired proprioception and touch


acrodysostosis with multiple hormone resistance


childhood precursor T-lymphoblastic lymphoma/leukemia


hearing loss, autosomal dominant 34, with or without inflammation


congenital stationary night blindness autosomal dominant 3


autosomal dominant rhegmatogenous retinal detachment


polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG


intermediate cell type ciliary body melanoma


immunodeficiency 82 with systemic inflammation


familial acute necrotizing encephalopathy


growth delay due to insulin-like growth factor I resistance


corneal dystrophy, posterior polymorphous, 4


communicating congenital bronchopulmonary-foregut malformation


lissencephaly 7 with cerebellar hypoplasia


hemolytic anemia due to glutathione reductase deficiency


muscular dystrophy-dystroglycanopathy, type C


congenital hereditary endothelial dystrophy of cornea


immunodeficiency 93 and hypertrophic cardiomyopathy


hypoinsulinemic hypoglycemia and body hemihypertrophy


vitamin B12- and folate-independent constitutional megaloblastic anemia


junctional epidermolysis bullosa Herlitz type


encephalopathy due to defective mitochondrial and peroxisomal fission 2


Charcot-Marie-Tooth disease axonal type 2U


endometrioid stromal sarcoma of the cervix


X-linked intellectual disability, van Esch type


MGAT2-congenital disorder of glycosylation


congenital dyserythropoietic anemia type 1


neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies


facial paresis, hereditary congenital, 2


neurodegeneration with brain iron accumulation 8


early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation


pyruvate carboxylase deficiency, infantile form


sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy


primary bone dysplasia with multiple joint dislocations


short stature-brachydactyly-obesity-global developmental delay syndrome


developmental delay with autism spectrum disorder and gait instability


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


hemolytic anemia due to erythrocyte adenosine deaminase overproduction


sulfite oxidase deficiency due to molybdenum cofactor deficiency type C


parasitic ectoparasitic infectious disease


intellectual disability, autosomal dominant 2


combined oxidative phosphorylation defect type 24


autosomal recessive nonsyndromic hearing loss 47


lymphoproliferative disease associated with primary immune disease


X-linked intellectual disability, Schimke type


Charcot-Marie-Tooth disease axonal type 2F


neuronopathy, distal hereditary motor, type 1


primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma


mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5


intellectual disability, autosomal recessive 64


autosomal recessive nonsyndromic hearing loss 97


microcephalic primordial dwarfism, Alazami type


mitochondrial complex 4 deficiency, nuclear type 18


primary immunodeficiency due to a genetic defect in innate immunity


partial deletion of the long arm of chromosome 21


X-linked intellectual disability-cerebellar hypoplasia syndrome


autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)


intellectual disability, autosomal recessive 54


Alzheimer disease without neurofibrillary tangles


Bernard-Soulier syndrome, type A2, autosomal dominant


disorder of peptide and amine metabolism


sodium channelopathy-related small fiber neuropathy


autosomal recessive nonsyndromic hearing loss 68


congenital stationary night blindness 1B


amelogenesis imperfecta, hypomaturation type, IIa6


neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures


diarrhea-vomiting due to trehalase deficiency


AKT2-related familial partial lipodystrophy


familial Mediterranean fever, autosomal dominant


developmental and epileptic encephalopathy, 58


mitochondrial substrate carrier disorder


mitochondrial complex 1 deficiency, nuclear type 8


chromosome 22q11.2 microduplication syndrome


autosomal dominant nonsyndromic hearing loss 43


chronic inflammatory demyelinating polyneuritis


congenital absence/hypoplasia of thumb, bilateral


intellectual disability, autosomal dominant 41


mitochondrial complex III deficiency nuclear type 7


familial idiopathic inflammatory myopathy


neurodevelopmental disorder with alopecia and brain abnormalities


mitochondrial complex III deficiency nuclear type 9


erosive pustular dermatosis of the scalp


recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome


SSR4-congenital disorder of glycosylation


stenosis or atrophy of the coronary ostium


multiple congenital anomalies/dysmorphic syndrome-intellectual disability


myasthenia gravis with thymus hyperplasia


congenital muscular dystrophy with hyperlaxity


bladder exstrophy-epispadias-cloacal extrophy complex


spondyloepimetaphyseal dysplasia, Shohat type


hypotonia, infantile, with psychomotor retardation and characteristic facies 2


B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)


microcephalic primordial dwarfism due to RTTN deficiency


neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation


catecholaminergic polymorphic ventricular tachycardia 4


epilepsy, familial focal, with variable foci 4


developmental and epileptic encephalopathy, 16


immunodeficiency with defective T-cell response to interleukin 1


autosomal recessive spinocerebellar ataxia 10


straddling and/or overriding mitral valve


qualitative or quantitative defects of myotilin


primary pigmented nodular adrenocortical disease


STING-associated vasculopathy with onset in infancy


malformation of the cerebellar hemispheres


ectodermal dysplasia, trichoodontoonychial type


developmental and epileptic encephalopathy, 5


lissencephaly with cerebellar hypoplasia type E


nonprogressive cerebellar atxia with intellectual disability


infantile osteopetrosis with neuroaxonal dysplasia


ectrodactyly with and without other manifestations


non-neonatal early infantile epileptic encephalopathy


aniridia-ptosis-intellectual disability-familial obesity syndrome


autosomal dominant distal hereditary motor neuropathy


marcothrombocytopenia with mitral valve insufficiency


Duane retraction syndrome with congenital deafness


cerebroretinal microangiopathy with calcifications and cysts 2


Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15


autosomal dominant nonsyndromic hearing loss 23


congenital axonal neuropathy with encephalopathy


X-linked intellectual disability-precocious puberty-obesity syndrome


developmental and epileptic encephalopathy, 27


COG1-congenital disorder of glycosylation


acquired monoclonal Ig light chain-associated Fanconi syndrome


camptodactyly syndrome, Guadalajara type 2


alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome


familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome


intellectual disability, autosomal dominant 48


developmental and epileptic encephalopathy, 52


subepithelial mucinous corneal dystrophy


developmental and epileptic encephalopathy, 30


hypogonadotropic hypogonadism 5 with or without anosmia


bleeding diathesis due to thromboxane synthesis deficiency


hypogonadotropic hypogonadism 18 with or without anosmia


Zellweger-like syndrome without peroxisomal anomalies


micromelic bone dysplasia with cloverleaf skull


megalencephalic leukoencephalopathy with subcortical cysts


Charcot-Marie-Tooth disease dominant intermediate D


neonatal urinary tract infectious disease


symbrachydactyly of hand and foot, unilateral


autosomal dominant nonsyndromic hearing loss 40


lymphoplasmacytic lymphoma without IgM production


short stature-advanced bone age-early-onset osteoarthritis syndrome


alacrima, congenital, autosomal dominant


congenital pulmonary airway malformation type 3


early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome


maternal uniparental disomy of chromosome 2


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency


juvenile type testicular granulosa cell tumor


familial encephalopathy with neuroserpin inclusion bodies


autosomal dominant striatal neurodegeneration type 1


non-syndromic respiratory or mediastinal malformation


microcephalic osteodysplastic primordial dwarfism, type 3


autosomal dominant hypohidrotic ectodermal dysplasia


maternal uniparental disomy of chromosome 21


partial deletion of the short arm of chromosome 5


osteogenesis imperfecta and a reduction of bone mineral density.


partial duplication of the long arm of chromosome 22


agammaglobulinemia 9, autosomal recessive


craniosynostosis exostoses nevus epibulbar dermoid


autism spectrum disorder - epilepsy - arthrogryposis syndrome


autoinflammatory syndrome, familial, Behcet-like 1


Charcot-Marie-Tooth disease dominant intermediate F


frontotemporal dementia and/or amyotrophic lateral sclerosis 4


high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement


partial trisomy/tetrasomy of the short arm of chromosome 5


isolated diffuse palmoplantar keratoderma


night blindness, congenital stationary, type1i


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4


developmental and epileptic encephalopathy, 83


agammaglobulinemia 4, autosomal recessive


metabolic myopathy due to lactate transporter defect


congenital muscular dystrophy with cataracts and intellectual disability


heterotaxy, visceral, 11, autosomal, with male infertility


X-linked distal hereditary motor neuropathy


mosaic genome-wide paternal uniparental disomy


spastic paraplegia 85, autosomal recessive


acute myeloid leukemia, KIT gene mutation


abnormal origin or aberrant course of coronary artery


spondyloepimetaphyseal dysplasia-abnormal dentition syndrome


extralobar congenital pulmonary sequestration


cone dystrophy, X-linked, with tapetal-like sheen


autosomal dominant keratitis-ichthyosis-hearing loss syndrome


severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome


atypical hemolytic-uremic syndrome with B factor anomaly


multiple epiphyseal dysplasia due to collagen 9 anomaly


mixed endometrial stromal and smooth muscle tumor


disorder of fatty acid and ketone body metabolism


pituitary hormone deficiency secondary to storage disease


congenital anomaly of ventricular septum


congenital disorder of glycosylation, type IIr


idiopathic macular telangiectasia type 1


anomaly of puberty or/and menstrual cycle


isolated growth hormone deficiency type II


Erysipelothrix rhusiopathiae infectious disease


muscular dystrophy, progressive Pectorodorsal


polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1


autosomal recessive nonsyndromic hearing loss 46


DYRK1A-related intellectual disability syndrome


obesity due to leptin receptor gene deficiency


tumoral calcinosis, hyperphosphatemic, familial, 3


intellectual developmental disorder, X-linked 108


premalignant hematological system disease


Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


light and heavy chain deposition disease


agammaglobulinemia 8, autosomal dominant


isolated focal cortical dysplasia type IIa


panniculitis and localized lipodystrophy


hypertrophic osteoarthropathy, primary, autosomal recessive, 2


paternal 20q13.2q13.3 microdeletion syndrome


glycerol kinase deficiency, juvenile form


demyelinating hereditary motor and sensory neuropathy


severe combined immunodeficiency due to LAT deficiency


mitochondrial DNA depletion syndrome, hepatocerebral form


spondyloepimetaphyseal dysplasia, PAPSS2 type


familial median cleft of the upper and lower lips


polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


congenital muscular dystrophy without intellectual disability


mitochondrial complex 1 deficiency, nuclear type 30


woolly hair-palmoplantar keratoderma syndrome


intellectual disability, autosomal dominant 43


X-linked syndromic intellectual disability


microcephaly 5, primary, autosomal recessive


pyruvate dehydrogenase E1-alpha deficiency


combined immunodeficiency due to POLE2 deficiency


combined oxidative phosphorylation defect type 21


mitochondrial complex 4 deficiency, nuclear type 12


intellectual disability, autosomal dominant 29


familial male-limited precocious puberty


gaze palsy, familial horizontal, with progressive scoliosis 1


neuropathy, hereditary motor and sensory, type 6B


autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


acute myeloid leukemia with t(9;11)(p22;q23)


Charcot-Marie-Tooth disease axonal type 2X


congenital generalized lipodystrophy type 3


neuronopathy, distal hereditary motor, type 2C


autosomal recessive nonsyndromic hearing loss 63


autosomal recessive limb-girdle muscular dystrophy type R18


neuronopathy, distal hereditary motor, type 7B


intellectual developmental disorder, autosomal recessive 71


holoprosencephaly 12 with or without pancreatic agenesis


mitochondrial complex IV deficiency, nuclear-type


childhood-onset benign chorea with striatal involvement


spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability


anterior cutaneous nerve entrapment syndrome


retinal ciliopathy due to mutation in Bardet-Biedl gene


neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


symptomatic form of fragile X syndrome in female carrier


disorder of thiamine metabolism and transport


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


hypogonadotropic hypogonadism 6 with or without anosmia


patterned dystrophy of the retinal pigment epithelium


autosomal dominant proximal spinal muscular atrophy


intellectual disability, autosomal recessive 65


corpus callosum agenesis-macrocephaly-hypertelorism syndrome


facioscapulohumeral muscular dystrophy 2


autosomal recessive spastic paraplegia type 68


isolated growth hormone deficiency, type 5


autosomal recessive palmoplantar keratoderma and congenital alopecia


syndromic X-linked intellectual disability Nascimento type


late infantile neuronal ceroid lipofuscinosis


chromosome 15q13.3 microdeletion syndrome


X-linked intellectual disability, Schutz type


intellectual disability, autosomal dominant 52


intellectual disability, autosomal recessive 23


generalized galactose epimerase deficiency


hypogonadotropic hypogonadism 23 with or without anosmia


autosomal recessive cerebellar ataxia-blindness-deafness syndrome


renal tubular acidosis, distal, 4, with hemolytic anemia


acute myeloid leukemia, inv(3)(q21.3;q26.2)


malignant mixed epithelial and mesenchymal tumor of cervix uteri


autosomal recessive nonsyndromic hearing loss 27


Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome


COG8-congenital disorder of glycosylation


intellectual disability, autosomal recessive 13


acute disseminated encephalomyelitis without anti-MOG antibodies


Y chromosome infertility due to DAZ1 deletion


neonatal severe primary hyperparathyroidism


progeroid and marfanoid aspect-lipodystrophy syndrome


neurodevelopmental disorder with dysmorphic facies and variable seizures


microcephaly 23, primary, autosomal recessive


familial mesial temporal lobe epilepsy with febrile seizures


spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


Epstein-Barr virus-associated mesenchymal tumor


chronic inflammation of lacrimal passage


partial duplication of the long arm of chromosome 17


immunodeficiency 63 with lymphoproliferation and autoimmunity


Pelizaeus-Merzbacher disease, classic form


hypogonadotropic hypogonadism-frontoparietal alopecia syndrome


developmental and epileptic encephalopathy, 12


central nervous system calcification-deafness-tubular acidosis-anemia syndrome


glycogen storage disease due to GLUT2 deficiency


autoimmune lymphoproliferative syndrome type 2B


spinocerebellar ataxia, autosomal recessive 28


partial deletion of the long arm of chromosome 3


nystagmus 2, congenital, autosomal dominant


peroxisome biogenesis disorder due to PEX12 defect


MED12-related intellectual disability syndrome


early-onset cerebellar ataxia with retained tendon reflexes


late-onset junctional epidermolysis bullosa


oculocerebrofacial syndrome, Kaufman type


neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


negative rheumatoid factor polyarthritis


factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor


autosomal dominant pseudohypoaldosteronism type 1


congenital disorder of glycosylation with defective fucosylation


silver-Russell syndrome due to maternal uniparental disomy of chromosome 7


Charcot-Marie-Tooth disease, demyelinating, IIA 1H


testicular non-seminomatous germ cell tumor


craniosynostosis cleft lip palate arthrogryposis


childhood testicular mixed germ cell cancer


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4


spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


acute myeloid leukemia with t(8;16)(p11;p13) translocation


mitochondrial myopathy with reversible cytochrome C oxidase deficiency


postlingual non-syndromic genetic hearing loss


N-malonyltransferase activity

biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


Unresectable Skin Squamous Cell Carcinoma


peptidyl-lysine modification to peptidyl-N6-pyruvic acid 2-iminyl-L-lysine

biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


positive regulation of Wnt signaling pathway by BMP signaling pathway

biolink:Pathway biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


Small Intestinal Small Cell Neuroendocrine Carcinoma


facial modiolus

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


magnetoreception by sensory perception of chemical stimulus


negative regulation of neural crest cell fate specification


negative regulation of neural crest formation


positive regulation of chondrocyte development


proximal epiphysis of third metatarsal bone


proximal epiphysis of first metatarsal bone


proximal epiphysis of fifth metatarsal bone


proximal epiphysis of second metatarsal bone


proximal epiphysis of fourth metatarsal bone


regulation of connective tissue replacement involved in inflammatory response wound healing


negative regulation of connective tissue replacement involved in inflammatory response wound healing


positive regulation of connective tissue replacement involved in inflammatory response wound healing


synaptic vesicle, resting pool

biolink:CellularComponent biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


Kidney Part

biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


Magnesium ammonium phosphate urolithiasis


Stage IIIB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8


positive regulation of non-professional antigen presenting cell antigen processing and presentation


plasma membrane bounded cell projection assembly


lamellipodium assembly involved in ameboidal cell migration


endothelial tip cell filopodium assembly


lamellipodium assembly involved in mesendodermal cell migration


extension of leading cell process to pial surface


beta-alanine biosynthetic process via 3-ureidopropionate


plasma membrane ATP synthesis coupled electron transport


compound eye cone cell fate determination


negative regulation of B-1 B cell differentiation


negative regulation of plasma cell differentiation


positive regulation of core promoter binding


oxidoreductase activity, acting on other nitrogenous compounds as donors, with a quinone or similar compound as acceptor


negative regulation of antigen processing and presentation via MHC class Ib


regulation of antigen processing and presentation via MHC class Ib


regulation of antigen processing and presentation of lipid antigen via MHC class Ib


regulation of antigen processing and presentation of peptide antigen via MHC class Ib


positive regulation of antigen processing and presentation via MHC class Ib


positive regulation of antigen processing and presentation of peptide antigen via MHC class Ib


negative regulation of antigen processing and presentation of lipid antigen via MHC class Ib


negative regulation of antigen processing and presentation of peptide antigen via MHC class Ib


positive regulation of antigen processing and presentation of lipid antigen via MHC class Ib


proteolysis by cytosolic proteases associated with antigen processing and presentation


host cell endoplasmic reticulum-Golgi intermediate compartment


regulation of coreceptor activity involved in epidermal growth factor receptor signaling pathway


negative regulation of coreceptor activity involved in epidermal growth factor receptor signaling pathway


positive regulation of coreceptor activity involved in epidermal growth factor receptor signaling pathway


P Wave Abnormality by ECG Finding

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


platelet activating factor catabolic process


positive regulation of glucuronosyltransferase activity


acyl coenzyme A: isopenicillin N acyltransferase activity


regulation of branching involved in mammary cord morphogenesis by fat precursor cell-epithelial cell signaling


Clinical Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8


respiratory system arterial smooth muscle


regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I


negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I


positive regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I


positive regulation of male pigmentation


Hodgkin's disease mixed cellularity stage II subdiaphragmatic


Ann Arbor Stage II Mixed Cellularity Classic Hodgkin Lymphoma


Hodgkin's disease mixed cellularity stage II supradiaphragmatic


exoribonuclease activity, producing 3'-phosphomonoesters


exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 3'-phosphomonoesters


DNA 5'-adenosine monophosphate hydrolase activity


poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends


3'-5'-exoribonuclease activity involved in mature miRNA 3'-end processing


double-stranded DNA 5'-3' exodeoxyribonuclease activity


promoter-enhancer loop anchoring activity


epithelial cell migration, open tracheal system


Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma


1-18:1-2-18:2-phosphatidylcholine desaturase activity (SN2-18:3 forming)


positive regulation of hydrogen peroxide-induced cell death


positive regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide


cytoplasmic side of late endosome membrane


tetracenomycin B3 8-O-methyl transferase activity


suppression by symbiont of host adenylate cyclase-mediated signal transduction


apical plasma membrane urothelial plaque


positive regulation of molecular function


positive regulation of m7G(5')pppN diphosphatase activity


positive regulation of DNA-5-methylcytosine glycosylase activity


positive regulation of glucosylceramidase activity


positive regulation of DNA N-glycosylase activity


positive regulation of D-amino-acid oxidase activity


positive regulation of arginase activity


positive regulation of iron ion transmembrane transporter activity


positive regulation of beta1-adrenergic receptor activity


positive regulation of inward rectifier potassium channel activity


positive regulation of advanced glycation end-product receptor activity


positive regulation of glucagon-like peptide receptor 1 activity in another organism


negative regulation of guanyl-nucleotide exchange factor activity


positive regulation of potassium:proton exchanging ATPase activity


positive regulation of pyruvate dehydrogenase activity


positive regulation of glutamate-cysteine ligase activity


positive regulation of creatine transmembrane transporter activity


positive regulation of pyruvate kinase activity


positive regulation of recombination hotspot binding


positive regulation of nerve growth factor receptor activity


positive regulation of peroxidase activity


positive regulation of prostaglandin-E synthase activity


positive regulation of choline O-acetyltransferase activity


positive regulation of ATP citrate synthase activity


positive regulation of water channel activity


positive regulation of mRNA 3'-UTR binding


positive regulation of malate dehydrogenase (decarboxylating) (NADP+) activity


positive regulation of double-stranded telomeric DNA binding


positive regulation of alpha-(1->3)-fucosyltransferase activity


positive regulation of beta-galactosidase activity


positive regulation of argininosuccinate synthase activity


positive regulation of selenocysteine insertion sequence binding


positive regulation of voltage-gated sodium channel activity in another organism


positive regulation of catalase activity


positive regulation of cyclic nucleotide-gated ion channel activity


positive regulation of molecular function in another organism


positive regulation of G protein-coupled receptor activity in another organism


positive regulation of DNA nucleotidylexotransferase activity


positive regulation of glutathione peroxidase activity


positive regulation of DNA replication origin binding


positive regulation of guanyl-nucleotide exchange factor activity


positive regulation of single-stranded telomeric DNA binding


positive regulation of methylenetetrahydrofolate reductase (NAD(P)H) activity


positive regulation of glycogen synthase activity, transferring glucose-1-phosphate


positive regulation of GTP cyclohydrolase I activity


positive regulation of phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands


positive regulation of water channel activity involved in maintenance of lens transparency


positive regulation of osmolarity-sensing cation channel activity


positive regulation of corticotropin-releasing hormone receptor activity


positive regulation of GABA-A receptor activity


positive regulation of threonine-tRNA ligase activity


positive regulation of lipid transporter activity


positive regulation of proton-transporting ATP synthase activity, rotational mechanism


positive regulation of isoleucine-tRNA ligase activity


positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding


positive regulation of protein-glutamine gamma-glutamyltransferase activity


positive regulation of heme oxygenase activity


positive regulation of CoA-transferase activity


positive regulation of G-quadruplex DNA binding


positive regulation of lysozyme activity


positive regulation of vasoactive intestinal polypeptide receptor activity in another organism


positive regulation of tyrosinase activity


positive regulation of all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity


positive regulation of triplex DNA binding


positive regulation of L-dopa decarboxylase activity


positive regulation of aminoacyl-tRNA ligase activity


positive regulation of oxidative phosphorylation uncoupler activity


positive regulation of tyrosine 3-monooxygenase activity


positive regulation of Rho guanyl-nucleotide exchange factor activity


positive regulation of polynucleotide adenylyltransferase activity


positive regulation of catalytic activity


positive regulation of NMDA glutamate receptor activity


positive regulation of phospholipase D activity


positive regulation of ribonucleoside-diphosphate reductase activity


positive regulation of methionine-tRNA ligase activity


positive regulation of glutamate-ammonia ligase activity


positive regulation of endo-1,4-beta-xylanase activity


positive regulation of receptor activity in another organism


positive regulation of light-activated channel activity


positive regulation of heparan sulfate binding


positive regulation of proteinase activated receptor activity


positive regulation of intracellular calcium activated chloride channel activity


positive regulation of calcium ion binding


positive regulation of G-protein activated inward rectifier potassium channel activity


positive regulation of euchromatin binding


positive regulation of cystathionine beta-synthase activity


positive regulation of pyrroline-5-carboxylate reductase activity


positive regulation of calcium-dependent ATPase activity


negative regulation of Rho guanyl-nucleotide exchange factor activity


positive regulation of dUTP diphosphatase activity


Structure of glomerular capillary endothelium


positive regulation of spinal cord association neuron differentiation by negative regulation of canonical Wnt signaling pathway


regulation of spinal cord association neuron differentiation


positive regulation of spinal cord association neuron differentiation


negative regulation of spinal cord association neuron differentiation


positive regulation of spinal cord association neuron differentiation by canonical Wnt signaling pathway


mycophenolic acid acyl-glucuronide esterase activity


all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity


L-ascorbate 6-phosphate lactonase activity


primary fluorescent dioxobilin-type chlorophyll catabolite methylesterase activity


methyl indole-3-acetate esterase activity


all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity


1-16:0-2-18:2-phosphatidylcholine sn-1 acylhydrolase activity


vinylacetate caboxylester hydrolase activity


protein C-terminal methylesterase activity


all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity


pimelyl-[acyl-carrier protein] methyl ester esterase activity


positive regulation of endothelin production


hercynylcysteine sulfoxide synthase activity


ramus muscularis of glossopharyngeus nerve


L-alanine oxidation to pyruvate via D-alanine


beta-alanine catabolic process to L-alanine


L-alanine catabolic process, by transamination


L-alanine oxidation to D-lactate and ammonia


arginine catabolic process to alanine via ornithine


voltage-gated sodium channel activity involved in SA node cell action potential


arabitol transmembrane transporter activity


anaerobic 2,4,6-trinitrotoluene catabolic process


clearance of foreign intracellular nucleic acids


antimicrobial humoral immune response mediated by antimicrobial peptide


jasmonic acid and ethylene-dependent systemic resistance


natural killer cell mediated immune response to tumor cell


male-specific defense response to bacterium


natural killer cell mediated cytotoxicity directed against tumor cell target


male-specific antibacterial humoral response


melanotic encapsulation of foreign target


defense response against disruption of plasma membrane integrity


epicardium-derived cardiac vascular smooth muscle cell development


detection of reduced oxygen by carotid body chemoreceptor signaling


positive regulation of bone trabecula formation


p-hydroxyphenyl lignin catabolic process


isoflavonoid phytoalexin catabolic process


negative regulation of colon smooth muscle contraction


visual perception involved in equilibrioception


negative regulation of sevenless signaling pathway


positive regulation of antibody-dependent cellular cytotoxicity


diphosphate-purine nucleoside kinase activity


germarium-derived female germ-line cyst formation


Splenic Manifestation of Chronic Lymphocytic Leukemia


extraglomerular mesangial cell proliferation


mesonephric extraglomerular mesangial cell proliferation involved in mesonephros development


negative regulation of granulosa cell proliferation


adenylate cyclase-inhibiting adrenergic receptor signaling pathway


adenylate cyclase-inhibiting adrenergic receptor signaling pathway involved in heart process


chanoclavine-I aldehyde biosynthetic process


negative regulation of positive chemotaxis to cAMP by DIF-2


positive regulation of epidermal growth factor receptor signaling pathway involved in heart process


positive regulation of ERBB3 signaling pathway


evasion of host immune response via modulation of host complement system


glutamate dehydrogenase (NADP+) activity


positive regulation of transforming growth factor beta1 activation


old cell tip after activation of bipolar cell growth


regulation of dehydroaustinol biosynthetic process


negative regulation of dehydroaustinol biosynthetic process


(3R)-hydroxyacyl-CoA dehydrogenase (NAD) activity


deoxyribonuclease IV (phage-T4-induced) activity


cholesterol biosynthetic process via 24,25-dihydrolanosterol


Ann Arbor Stage I Lymphocyte-Depleted Classic Hodgkin Lymphoma


Ann Arbor Stage I Supradiaphragmatic Lymphocyte-Depleted Classic Hodgkin Lymphoma


Ann Arbor Stage I Subdiaphragmatic Lymphocyte-Depleted Classic Hodgkin Lymphoma


Stage IB Adult Soft Tissue Sarcoma AJCC v7


negative regulation of type IIa hypersensitivity


negative regulation of tolerance induction to nonself antigen


negative regulation of tolerance induction dependent upon immune response


positive regulation of T cell antigen processing and presentation


positive regulation of complement activation, classical pathway


regulation of antibody-dependent cellular cytotoxicity


negative regulation of B cell antigen processing and presentation


regulation of tolerance induction to nonself antigen


positive regulation of B cell antigen processing and presentation


negative regulation of type IIb hypersensitivity


regulation of tolerance induction dependent upon immune response


negative regulation of T-helper 17 cell lineage commitment


helper T cell enhancement of B cell mediated immune response


negative regulation of complement activation, classical pathway in another organism


positive regulation of type IIb hypersensitivity


regulation of B cell antigen processing and presentation


negative regulation of type II hypersensitivity


negative regulation of T cell antigen processing and presentation


modulation of complement activation, classical pathway in another organism


positive regulation of peripheral tolerance induction


positive regulation of tolerance induction to nonself antigen


regulation of B cell cytokine production


helper T cell enhancement of T cell mediated immune response


negative regulation of antibody-dependent cellular cytotoxicity


regulation of peripheral tolerance induction


positive regulation of tolerance induction dependent upon immune response


negative regulation of type III hypersensitivity


regulation of T-helper 1 cell cytokine production


negative regulation of type I hypersensitivity


positive regulation of type IV hypersensitivity


positive regulation of type III hypersensitivity


negative regulation of peripheral tolerance induction


positive regulation of B cell cytokine production


positive regulation of T-helper 1 cell cytokine production


copper-nicotianamine transmembrane transporter activity


regulation of somatic stem cell division


positive regulation of somatic stem cell division


negative regulation of somatic stem cell division


Meckel Diverticulum Neuroendocrine Tumor G1


Psoralen and long-wave ultraviolet radiation (PUVA) keratosis


modulation of relaxation of smooth muscle in another organism


positive regulation of relaxation of uterine smooth muscle in another organism


modulation of relaxation of uterine smooth muscle in another organism


translation at presynapse, modulating chemical synaptic transmission


dynamin family protein polymerization involved in membrane fission


dynamin family protein polymerization involved in mitochondrial fission


negative regulation of glutathione peroxidase activity


negative regulation of tyrosinase activity


negative regulation of pyruvate dehydrogenase activity


negative regulation of malate dehydrogenase (decarboxylating) (NADP+) activity


negative regulation of succinate dehydrogenase activity


negative regulation of heme oxygenase activity


negative regulation of primary amine oxidase activity


negative regulation of cytokinin dehydrogenase activity


negative regulation of methylenetetrahydrofolate reductase (NAD(P)H) activity


negative regulation of peroxidase activity


negative regulation of D-amino-acid oxidase activity


negative regulation of thioredoxin peroxidase activity


regulation of advanced glycation end-product receptor activity


negative regulation of advanced glycation end-product receptor activity


positive regulation of BMP signaling pathway involved in determination of lateral mesoderm left/right asymmetry


positive regulation of dentin-containing tooth bud formation by mesenchymal-epithelial signaling


Recurrent Childhood Brain Stem Astrocytoma


Secondary malignant neoplasm of brain stem


cellular response to phosphate starvation


(S)-limonene 1,2-monooxygenase NADPH activity


Recurrent Mixed Phenotype Acute Leukemia


mesenchymal to epithelial transition involved in renal vesicle formation


mesenchymal to epithelial transition involved in metanephric renal vesicle formation


mesenchymal to epithelial transition involved in mesonephric renal vesicle formation


mesenchymal to epithelial transition involved in mesonephros morphogenesis


Ampulla of Vater Neuroendocrine Tumor G3


Low Risk Small Intestinal Gastrointestinal Stromal Tumor


Low Risk Esophageal Gastrointestinal Stromal Tumor


Low Risk Colorectal Gastrointestinal Stromal Tumor


Low Risk Gastric Gastrointestinal Stromal Tumor


2-cis,6-cis-farnesyl pyrophosphate synthase activity


negative regulation of substance P receptor binding


Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type


Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type


Branch Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm


Mixed Type Pancreatic Intraductal Papillary-Mucinous Neoplasm


Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type


Main Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm


Pancreatic Intraductal Papillary Mucinous Neoplasm, Intestinal-Type


toluene oxidation via toluene-cis-1,2-dihydrodiol


negative regulation of amacrine cell differentiation


regulation of amacrine cell differentiation


positive regulation of amacrine cell differentiation


sialadenoma papilliferum of salivary gland


lateral sprouting involved in mammary gland duct morphogenesis


negative regulation of androgen secretion


negative regulation of defecation rhythm


negative regulation of thyroid-stimulating hormone secretion


negative regulation of ecdysteroid secretion


negative regulation of substance P secretion


negative regulation of corticosterone secretion


negative regulation of histamine secretion by mast cell


negative regulation of androstenedione secretion


negative regulation of renal sodium excretion by angiotensin


negative regulation of testosterone secretion


negative regulation of glutamate secretion, neurotransmission


negative regulation of dehydroepiandrosterone secretion


negative regulation of estradiol secretion


negative regulation of bile acid secretion


negative regulation by symbiont of host neurotransmitter secretion


negative regulation of progesterone secretion


negative regulation of activin secretion


negative regulation of growth hormone secretion


negative regulation of glycine secretion, neurotransmission


negative regulation of substance P secretion, neurotransmission


negative regulation of estrogen secretion


negative regulation of somatostatin secretion


negative regulation of aldosterone secretion


negative regulation of aspartate secretion


negative regulation of corticotropin-releasing hormone secretion


negative regulation of calcitonin secretion


negative regulation of parathyroid hormone secretion


negative regulation of mineralocorticoid secretion


negative regulation of inhibin secretion


negative regulation of corticotropin secretion


negative regulation of estrone secretion


negative regulation of cortisol secretion


negative regulation of arachidonic acid secretion


negative regulation of juvenile hormone secretion


negative regulation of midbrain dopaminergic neuron differentiation


Low Grade Malignant Peripheral Nerve Sheath Tumor


unsaturated chondroitin disaccharide hydrolase activity


heparan sulfate proteoglycan biosynthetic process, linkage to polypeptide


response to meiotic cell cycle checkpoint signaling


response to meiotic spindle assembly checkpoint signaling


response to meiotic DNA replication checkpoint signaling


Refractory Paranasal Sinus Squamous Cell Carcinoma


Refractory Head and Neck Squamous Cell Carcinoma


Refractory Sinonasal Squamous Cell Carcinoma


Refractory Oral Cavity Squamous Cell Carcinoma


Refractory Cutaneous Squamous Cell Carcinoma of the Head and Neck


Resectable Pancreatic Acinar Cell Carcinoma


Borderline Resectable Pancreatic Adenocarcinoma


Borderline Resectable Pancreatic Carcinoma


Resectable Pancreatic Ductal Adenocarcinoma


Resectable Pancreatic Adenosquamous Carcinoma


negative regulation of protein-glutamine gamma-glutamyltransferase activity


negative regulation of gamma-delta T cell proliferation


negative regulation of CD8-positive, alpha-beta T cell proliferation


negative regulation of T cell homeostatic proliferation


negative regulation of NK T cell proliferation


Stage I Lip and Oral Cavity Cancer AJCC v8


positive regulation of centriole-centriole cohesion


negative regulation of centriole-centriole cohesion


negative regulation of age-related resistance


regulation of connective tissue growth factor production


positive regulation of connective tissue growth factor production


anaerobic glycerol catabolic process to propane-1,3-diol


negative regulation of epithelial cell-cell adhesion involved in epithelium migration


regulation of epithelial cell-cell adhesion involved in epithelium migration


positive regulation of epithelial cell-cell adhesion involved in epithelium migration


Hemolytic anemia due to disseminated intravascular coagulation


Angiocentric immunoproliferative lesion grade 2


Central Nervous System Lymphomatoid Granulomatosis


nucleosomal methylation activator complex


High Grade Anal Canal Intraepithelial Neoplasia


negative regulation of meiotic chromosome separation


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6


alkanal monooxygenase (FMN-linked) activity


nitrilotriacetate monooxygenase activity (FMN-dependent)


Reactive Hyperplasia of the Retinal Pigment Epithelium


negative regulation of cell proliferation involved in heart valve morphogenesis


regulation of cell proliferation involved in heart valve morphogenesis


positive regulation of cell proliferation involved in heart valve morphogenesis


negative regulation of transferrin receptor binding


negative regulation of selenocysteine insertion sequence binding


negative regulation of apolipoprotein binding


regulation of heparan sulfate proteoglycan binding


negative regulation of C-C chemokine binding


regulation of selenocysteine insertion sequence binding


negative regulation of chemokine activity


negative regulation of double-stranded telomeric DNA binding


negative regulation of microtubule binding


negative regulation of growth hormone activity


negative regulation of core promoter binding


regulation of microtubule minus-end binding


negative regulation of G-quadruplex DNA binding


regulation of single-stranded telomeric DNA binding


negative regulation of telomeric DNA binding


regulation of DNA replication origin binding


negative regulation of euchromatin binding


negative regulation of actin filament binding


regulation of substance P receptor binding


negative regulation of DNA replication origin binding


negative regulation of small GTPase binding


regulation of double-stranded telomeric DNA binding


negative regulation of heparan sulfate binding


regulation of guanyl-nucleotide exchange factor activity


negative regulation of mRNA 3'-UTR binding


modulation by host of RNA binding by virus


regulation of recombination hotspot binding


negative regulation of ferrous iron binding


negative regulation of heparan sulfate proteoglycan binding


regulation of RNA polymerase I regulatory region sequence-specific DNA binding


negative regulation of microtubule plus-end binding


regulation of low-density lipoprotein particle receptor binding


negative regulation of triplex DNA binding


negative regulation of RNA polymerase I regulatory region sequence-specific DNA binding


geranylfarnesyl diphosphate synthase activity


3,8-divinyl protochlorophyllide a 8-vinyl reductase activity


CD8-positive, alpha-beta cytotoxic T cell extravasation


CD8-positive, alpha-beta T cell extravasation


ABC-type quaternary ammonium compound transporting activity


ABC-type glycine betaine transporter activity


glycine betaine-activated nonselective monovalent cation channel activity


glycine betaine:proton symporter activity


quaternary ammonium group:proton symporter activity


(R)-carnitine transmembrane transporter activity


acyl carnitine transmembrane transporter activity


glycine betaine:sodium:chloride symporter activity


ATPase-coupled hydroxyectoine transmembrane transporter activity


N-methylnicotinate transmembrane transporter activity


4-(trimethylammonio)butanoate transmembrane transporter activity


oxidoreductase activity, acting on iron-sulfur proteins as donors, dinitrogen as acceptor


negative regulation of chaperone-mediated protein folding


low-affinity sulfate:proton symporter activity


high-affinity sulfate:proton symporter activity


high-affinity sulfate transmembrane transporter activity


cobinamide phosphate guanylyltransferase activity


peptidoglycan peptide transmembrane transporter activity


postsynaptic modulation of chemical synaptic transmission


Stage IVB Uterine Corpus Leiomyosarcoma AJCC v8


Stage IIIA Uterine Corpus Leiomyosarcoma AJCC v8


Stage I Uterine Corpus Leiomyosarcoma AJCC v8


Stage IV Uterine Corpus Leiomyosarcoma AJCC v8


Stage IVA Uterine Corpus Leiomyosarcoma AJCC v8


Stage IB Uterine Corpus Leiomyosarcoma AJCC v8


Unresectable Uterine Corpus Leiomyosarcoma


Stage IIIB Uterine Corpus Leiomyosarcoma AJCC v8


Uterine Corpus Leiomyosarcoma by AJCC v8 Stage


Stage IIIC Uterine Corpus Leiomyosarcoma AJCC v8


Locally Recurrent Uterine Corpus Leiomyosarcoma


Stage III Uterine Corpus Leiomyosarcoma AJCC v8


Metastatic Uterine Corpus Leiomyosarcoma


Locally Advanced Uterine Corpus Leiomyosarcoma


Stage IA Uterine Corpus Leiomyosarcoma AJCC v8


Locally Advanced Soft Tissue Leiomyosarcoma


phagolysosome assembly involved in apoptotic cell clearance


inositol 5-diphosphate pentakisphosphate 5-kinase activity


Refractory Malignant Soft Tissue Neoplasm


skeletal muscle tissue of pectoralis major


Refractory Adrenal Gland Pheochromocytoma


ion antiporter activity involved in regulation of postsynaptic membrane potential


amino acid:monoatomic cation antiporter activity


aspartate:glutamate, proton antiporter activity


calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential


gamma-aminobutyric acid:proton antiporter activity


metal cation:monoatomic cation antiporter activity


ion antiporter activity involved in regulation of presynaptic membrane potential


glutamate:gamma-aminobutyric acid antiporter activity


3-sulfino-L-alanine: proton, glutamate antiporter activity


calcium:cation antiporter activity involved in regulation of presynaptic cytosolic calcium ion concentration


calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration


caudal ganglionic eminence cell proliferation


chaperone mediated protein folding independent of cofactor


C-X-C chemokine receptor CXCR4 signaling pathway


CXCL12-activated CXCR4 signaling pathway


Beta-Catenin-Activated Inflammatory Hepatocellular Adenoma


gamma-tubulin complex localization to cytoplasmic side of mitotic spindle pole body


gamma-tubulin complex localization to nuclear side of mitotic spindle pole body


gamma-tubulin complex localization to mitotic spindle pole body


detection of mechanical stimulus involved in magnetoreception


Benign Gastric Gastrointestinal Stromal Tumor


euchromatin-nuclear membrane anchor activity


chromatin-nuclear membrane anchor activity


heterochromatin-nuclear membrane anchor activity


Stage IA Hepatocellular Carcinoma AJCC v8


Stage I Hepatocellular Carcinoma AJCC v8


Stage IB Hepatocellular Carcinoma AJCC v8


glyceraldehyde-3-phosphate dehydrogenase (ferredoxin) activity


plasma membrane proton-transporting ATP synthase, catalytic core


sn-2-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity


(R)-limonene 1,2-monooxygenase NADH activity


(R)-limonene 1,2-monooxygenase NADPH activity


response to jasmonic acid stimulus involved in jasmonic acid and ethylene-dependent systemic resistance


positive regulation of astrocyte chemotaxis


ventricular septum intermedium development


pectic arabinogalactan I metabolic process


rhamnogalacturonan I side chain metabolic process


negative regulation of cellooligosaccharide metabolic process


regulation of cellooligosaccharide metabolic process


positive regulation of cellooligosaccharide catabolic process


positive regulation of cellooligosaccharide metabolic process


negative regulation of cellooligosaccharide catabolic process


regulation of cellooligosaccharide catabolic process


Colorectal Microvesicular Hyperplastic Polyp


Stage II Gastric Neuroendocrine Tumor AJCC v8


RNA polymerase III type 2 promoter sequence-specific DNA binding


RNA polymerase III type 1 promoter sequence-specific DNA binding


single-strand break-containing DNA binding


double-stranded/single-stranded junction telomeric DNA binding


RNA polymerase II cis-regulatory region sequence-specific DNA binding, bending


rDNA spacer replication fork barrier binding, bending


mitochondrial promoter sequence-specific DNA binding


rDNA spacer replication fork barrier binding


RNA polymerase III hybrid type promoter sequence-specific DNA binding


promoter-terminator loop anchoring activity


non-sequence-specific DNA binding, bending


crossed form four-way junction DNA binding


RNA polymerase III type 3 promoter sequence-specific DNA binding


plastid promoter transcription regulatory region sequence-specific DNA binding


RNA polymerase III cis-regulatory region sequence-specific DNA binding


RNA polymerase I cis-regulatory region sequence-specific DNA binding


juvenile hormone response element binding


Dysembryoplastic Neuroepithelial-Like Tumor of the Septum Pellucidum


axial mesodermal cell fate specification


negative regulation of brown fat cell proliferation


Peritoneal mesothelioma malignant recurrent


establishment of myocardial progenitor cell apical/basal polarity


establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis


establishment of proximal/distal cell polarity


imaginal disc-derived wing hair site selection


positive regulation of chaperone-mediated protein folding


envenomation resulting in positive regulation of glucagon-like peptide receptor 1 activity in another organism


envenomation resulting in modulation of receptor activity in another organism


envenomation resulting in positive regulation of G protein-coupled receptor activity in another organism


envenomation resulting in positive regulation of vasoactive intestinal polypeptide receptor activity in another organism


envenomation resulting in modulation of glucagon-like peptide receptor 1 activity in another organism


envenomation resulting in modulation of G protein-coupled receptor activity in another organism


envenomation resulting in modulation of vasoactive intestinal polypeptide receptor activity in another organism


Clinical Stage 0 Merkel Cell Carcinoma AJCC v8


Merkel Cell Carcinoma by AJCC v8 Clinical Stage


Clinical Stage IV Merkel Cell Carcinoma AJCC v8


Clinical Stage IIA Merkel Cell Carcinoma AJCC v8


Clinical Stage IIB Merkel Cell Carcinoma AJCC v8


Clinical Stage II Merkel Cell Carcinoma AJCC v8


Clinical Stage III Merkel Cell Carcinoma AJCC v8


Clinical Stage I Merkel Cell Carcinoma AJCC v8


positive regulation of cellular response to heat


Small Intestinal Neuroendocrine Carcinoma


Small Intestinal Large Cell Neuroendocrine Carcinoma


endosome lysis involved in viral entry into host cell


lysis of host organelle involved in viral entry into host cell


macropinosome lysis involved in viral entry into host cell


Lumbar Spine Joint Range of Motion Decreased


positive regulation of sterol biosynthetic process


negative regulation of sterol biosynthetic process


negative regulation of androgen biosynthetic process


regulation of sterol biosynthetic process


Leaflet Disruption Due To Host Tissue Overgrowth


Leaflet Disruption Due To Suture Abrasion


oxidation-dependent protein catabolic process


cell wall polysaccharide catabolic process involved in lateral root development


plant-type cell wall cellulose catabolic process


cell wall macromolecule catabolic process involved in fungal-type cell wall disassembly


ubiquitin-dependent protein catabolic process via the C-end degron rule pathway


mitochondria-associated ubiquitin-dependent protein catabolic process


stress-induced homeostatically regulated protein degradation pathway


cell wall polysaccharide catabolic process involved in abscission


nuclear protein quality control by the ubiquitin-proteasome system


cell wall polysaccharide catabolic process


cell wall macromolecule catabolic process involved in cell wall disassembly


ribosome-associated ubiquitin-dependent protein catabolic process


arabinoxylan-containing compound catabolic process


cell wall macromolecule catabolic process involved in cytogamy


Fibroadenoma of Anogenital Mammary-Type Glands


Esophageal Squamous Intraepithelial Neoplasia


High Grade Esophageal Squamous Intraepithelial Neoplasia


Low Grade Esophageal Squamous Intraepithelial Neoplasia


Extramedullary Disease in Plasma Cell Myeloma Involving the Liver


cell proliferation in dorsal spinal cord


negative regulation of dauer larval development


negative regulation of post-embryonic development


negative regulation of short-day photoperiodism, flowering


negative regulation of long-day photoperiodism, flowering


negative regulation of flower development


negative regulation of lateral root development


negative regulation of stomatal complex development


negative regulation of nematode larval development


negative regulation of vulval development


negative regulation of nematode larval development, heterochronic


negative regulation of thermomorphogenesis


negative regulation of synaptic vesicle clustering


Stage IIIA Gastric Gastrointestinal Stromal Tumor


neurexin clustering involved in presynaptic membrane assembly


alignment of 3' and 5' splice sites of mRNA


aromatic primary alcohol biosynthetic process


regulation of multivesicular body size involved in endosome transport


regulation of post-lysosomal vacuole size


regulation of multivesicular body size involved in ubiquitin-dependent protein catabolism


Long-Term Effects Secondary to Cancer Therapy in Adults


regulation of vasoconstriction by circulating epinephrine


Entner-Doudoroff pathway through gluconate to D-glyceraldehyde-3-phosphate


Entner-Doudoroff pathway through gluconate


Entner-Doudoroff pathway through gluconate to D-glyceraldehyde


Entner-Doudoroff pathway through 6-phosphogluconate


negative regulation of skeletal muscle satellite cell activation involved in skeletal muscle regeneration


initiation of skeletal muscle satellite cell activation by growth factor signaling, involved in skeletal muscle regeneration


mitochondrial respiratory chain complex II assembly


Stage IIIA Rectal Neuroendocrine Tumor AJCC v8


Colorectal Neuroendocrine Tumor by AJCC v8 Stage


Stage I Colorectal Neuroendocrine Tumor AJCC v8


Stage IIB Colon Neuroendocrine Tumor AJCC v8


Stage IIB Rectal Neuroendocrine Tumor AJCC v8


Stage IIIB Colon Neuroendocrine Tumor AJCC v8


Stage IIIB Rectal Neuroendocrine Tumor AJCC v8


Rectal Neuroendocrine Tumor by AJCC v8 Stage


Stage IIB Colorectal Neuroendocrine Tumor AJCC v8


Stage IIA Colorectal Neuroendocrine Tumor AJCC v8


Stage IIA Rectal Neuroendocrine Tumor AJCC v8


Colon Neuroendocrine Tumor by AJCC v8 Stage


Stage IIIB Colorectal Neuroendocrine Tumor AJCC v8


Stage I Colon Neuroendocrine Tumor AJCC v8


Stage IIIA Colon Neuroendocrine Tumor AJCC v8


Stage IIA Colon Neuroendocrine Tumor AJCC v8


Stage IIIA Colorectal Neuroendocrine Tumor AJCC v8


cellulose catabolism by endo-processive cellulases


Phosphaturic mesenchymal tumor, malignant


negative regulation of myeloid dendritic cell antigen processing and presentation


regulation of myeloid dendritic cell antigen processing and presentation


positive regulation of myeloid dendritic cell antigen processing and presentation


endoplasmic reticulum tubular network formation


negative regulation of hair follicle maturation


negative regulation of hair follicle placode formation


negative regulation of timing of catagen


cyanophycin synthetase activity (L-arginine-adding)


aldonate transmembrane transporter activity


negative regulation of maltoheptaose transport


maintenance of stationary phase in response to toxin


endoplasmic reticulum-autophagosome adaptor activity


ripoptosome assembly involved in extrinsic apoptotic signaling pathway


maturation of SSU-rRNA from tetracistronic rRNA transcript (SSU-rRNA, LSU-rRNA, 4.5S-rRNA, 5S-rRNA)


oculomotor nerve structural organization


positive regulation of protein refolding


negative regulation of G1 to G0 transition


unsaturated monocarboxylic acid metabolic process


quercetin 3-sophoroside 7-O-rhamnosyltransferase activity


histone H3K18 acetyltransferase activity


3-hydroxyacyl-CoA-acyl carrier protein transferase activity


beta-alanine catabolic process to mevalonate semialdehyde, by transamination


regulation of Wnt signaling pathway involved in digestive tract morphogenesis


negative regulation of small molecule metabolic process


regulation of myeloid progenitor cell differentiation


envenomation resulting in negative regulation of blood coagulation in another organism


positive regulation of cardiac muscle cell myoblast differentiation


sulfate adenylyltransferase (ADP) activity


macrophage migration inhibitory factor signaling pathway


suppression by virus of host antigen processing and presentation of peptide antigen via MHC class I


induction by symbiont of host phytoalexin production


histone H3R17 methyltransferase activity


scutellarein 7-methyl ether 4'-O-methyltransferase activity


regulation of thyroid gland epithelial cell proliferation


inositol tetrakisphosphate 2-kinase activity


BMP signaling pathway involved in Malpighian tubule cell chemotaxis


anthocyanidin 3-O-glucoside 6''-O-acyltransferase activity


modulation by symbiont of defense-related host calcium-dependent protein kinase pathway


non-myelinated axon ensheathment in central nervous system


proteasome-nuclear membrane anchor activity


positive regulation of transforming growth factor beta2 activation


negative regulation of toll-like receptor 7 signaling pathway


cobalt ion transmembrane transporter activity


negative regulation of mesenchymal to epithelial transition involved in mesonephros morphogenesis


ATPase coupled ion transmembrane transporter activity involved in regulation of postsynaptic membrane potential


positive regulation of hypoxanthine transport


anterior/posterior lineage restriction, imaginal disc


negative regulation of conidiophore stalk development


regulation of systemic acquired resistance


negative regulation of all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity


negative regulation of formation of symbiont germ tube hook structure for appressorium development


maintenance of protein location in chloroplast


complement component C3a receptor activity


negative regulation of foraging behavior


regulation of iron ion import across plasma membrane


envenomation resulting in muscle damage in another organism


glutamate catabolic process to 4-hydroxybutyrate


regulation of galactomannan catabolic process


envenomation resulting in fibrinogenolysis in another organism


alpha-linked polysaccharide catabolism to maltopentaose


retrograde trans-synaptic signaling by neuropeptide


choline biosynthetic process via N-monomethylethanolamine


proton motive force-driven plasma membrane ATP synthesis


envenomation resulting in positive regulation of platelet aggregation in another organism


positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process


protein-glycine ligase activity, elongating


iron and molybdenum incorporation into iron-molybdenum-sulfur cluster via L-cysteinyl homocitryl molybdenum-heptairon-nonasulfide


negative regulation of circadian sleep/wake cycle, wakefulness


negative regulation of antigen processing and presentation of polysaccharide antigen via MHC class II


peptidyl-L-glutamyl 5-omega-hydroxyceramide ester biosynthetic process from peptidyl-glutamine


all-trans retinoic acid 4-hydrolase activity


basement membrane assembly involved in embryonic body morphogenesis


follicle cell of egg chamber-cell adhesion


positive regulation of opioid receptor signaling pathway


tRNA uridine(34) acetyltransferase activity


deoxyribonuclease (pyrimidine dimer) activity


N-terminal peptidyl-proline dimethylation involved in translation


protein localization to microtubule minus-end


positive regulation of macrophage colony-stimulating factor signaling pathway


oxidoreductase activity, acting on CH or CH2 groups, with an iron-sulfur protein as acceptor


positive regulation of sodium-dependent phosphate transport


cyanidin 3-O-glucoside biosynthetic process


adult chitin-containing cuticle pigmentation


maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, LSU-rRNA,5S)


epithelial cell migration involved in nephron tubule morphogenesis


oxidoreductase activity, acting on phosphorus or arsenic in donors, with other known acceptors


mesenchymal stem cell migration involved in uteric bud morphogenesis


oxidoreductase activity, acting on the aldehyde or oxo group of donors, cytochrome as acceptor


inositol heptakisphosphate kinase activity


negative regulation of adenylate cyclase-inhibiting opioid receptor signaling pathway


positive regulation of calcium-independent cell-cell adhesion


3-hydroxyphenyl propionate:proton symporter activity


regulation of meiotic cell cycle process involved in oocyte maturation


lipid A phosphate methyltransferase activity


fibroblast proliferation involved in heart morphogenesis


positive regulation of plasmacytoid dendritic cell cytokine production


microtubule-dependent intracellular transport of viral material towards nucleus


regulation of tyramine signaling pathway


tetrapyrrole biosynthetic process from glycine and succinyl-CoA


glycerol dehydrogenase [NAD(P)+] activity


negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process


protein-phosphocysteine-D-sorbitol-phosphotransferase system transporter activity


very long-chain-3-hydroxyacyl-CoA dehydrogenase activity


positive regulation of single-species biofilm formation


cuticle development involved in chitin-based cuticle molting cycle


cytoskeleton polarization involved in growth plate cartilage chondrocyte division


2,4,5-trichlorophenoxyacetic acid oxygenase activity


regulation of light-activated channel activity


regulation of morphogenesis of an epithelium


regulation of placenta blood vessel development


tartrate transmembrane transporter activity


peptide cross-linking via 4'-(L-tryptophan)-L-tryptophyl quinone


histone H3K79 trimethyltransferase activity


positive regulation of complement activation, alternative pathway in another organism


epithelial cell maturation involved in salivary gland development


positive regulation of vascular associated smooth muscle cell proliferation


regulation of antimicrobial peptide secretion


gibberellin A12 16alpha,17 epoxidase activity


nicotinamide mononucleotide transmembrane transporter activity


negative regulation of neuromuscular synaptic transmission


beta-alanine transmembrane transporter activity


replication of extrachromosomal circular DNA


alkanesulfonate transmembrane transporter activity


positive regulation of vascular associated smooth muscle cell differentiation


negative regulation of mammary gland involution


lipid droplet localization to prospore membrane leading edge


tracheal pit formation in open tracheal system


chemoattraction of branchiomotor neuron axon in neural tube


carbonyl cyanide m-chlorophenylhydrazone transmembrane transporter activity


branched-chain amino acid transmembrane transporter activity


evasion of host immune response via modulation of host antigen processing and presentation


regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway


positive regulation of vascular associated smooth muscle contraction


pyridoxine 5'-phosphate synthase activity